Neonatal Hemochromatosis: Diagnostic Work-Up Based on a Series of 56 Cases of Fetal Death and Neonatal Liver Failure

2015 ◽  
Vol 166 (1) ◽  
pp. 66-73 ◽  
Author(s):  
Sophie Heissat ◽  
Sophie Collardeau-Frachon ◽  
Julien Baruteau ◽  
Estelle Dubruc ◽  
Raymonde Bouvier ◽  
...  
Keyword(s):  
Liver Failure ◽  
Fetal Death ◽  
Neonatal Hemochromatosis ◽  
Neonatal Liver ◽  
Neonatal Liver Failure ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Acute liver failure

2020 ◽  
pp. 89-104
Author(s):  
Andrew Jones ◽  
Akash Deep
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Organ Support ◽  
Fulminant Liver Failure ◽  
Management Of Complications ◽  
Diagnostic Work ◽  
Work Up ◽  
Paediatric Critical Care ◽  
Diagnostic Work Up

The work-up and management of patients with acute liver failure in paediatric critical care are often challenging. This chapter takes the readers through definitions, grading of severity, and diagnostic work-up of acute liver failure in children. General principles underlying the management of acute liver failure, including immediate resuscitation and retrieval; organ support, including renal replacement therapy; and the management of complications, including bleeding, are discussed. In particular, this chapter focuses on neuromonitoring and neuroprotection strategies in children with hepatic encephalopathy as a complication. The role of liver transplantation in fulminant liver failure and a brief overview of complications are also discussed.

scholarly journals A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

2019 ◽  
Vol 41 (5) ◽  
pp. 460-464 ◽  
Author(s):  
Tadayuki Kumagai ◽  
Hiroshi Terashima ◽  
Hajime Uchida ◽  
Akinari Fukuda ◽  
Mureo Kasahara ◽  
...  
Keyword(s):  
Liver Failure ◽  
Disease Type ◽  
Neonatal Hemochromatosis ◽  
Niemann Pick Disease ◽  
Neonatal Liver ◽  
Neonatal Liver Failure ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals NEONATAL HEMOCHROMATOSIS: A RARE CASE REPORT WITH CONSANGUINITY

2020 ◽  
Vol 4 (5) ◽  
Author(s):  
Sandeep Mude ◽  
Bhushan Miraje ◽  
Vijay Gavade ◽  
Uday S. Patil ◽  
Rajendra S. Patil
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Liver Failure ◽  
Chelation Therapy ◽  
Severe Liver ◽  
Neonatal Hemochromatosis ◽  
Rare Case Report ◽  
Severe Liver Disease ◽  
Neonatal Liver ◽  
Neonatal Liver Failure

Background: Neonatal hemochromatosis (NH) is a rare and severe liver disease of mainly intra-uterine onset, characterized by neonatal liver failure, hepatic and extrahepatic iron acquisition.NH is also called as  Gestational alloimmune liver disease (GALD).  This leads to an altered iron metabolism with resulting siderosis ,multi-organ failure and infants may be stillborn or present with advance, overwhelming liver disease. The disease represents the most common cause of liver failure in neonates and is also the most common indication for neonatal liver transplantation. We present an neonate who died at 15 days of age,and who was found to have massive iron overload in the liver. Initial treatment consisted of chelation therapy and antioxidants, but lack of laboratory and clinical improvement led to an exchange transfusion followed by  intravenous immunoglobulin (IVIG). Irrespective of all above treatment no improvement of general condition of the patient. The unfavourable course of the disease is described in this case report.

scholarly journals Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Carolina Roos Mariano da Rocha ◽  
Renata Rostirola Guedes ◽  
Carlos Oscar Kieling ◽  
Marina Rossato Adami ◽  
Carlos Thadeu Schmidt Cerski ◽  
...  
Keyword(s):  
Liver Disease ◽  
Liver Failure ◽  
Specific Treatment ◽  
Neonatal Morbidity ◽  
Best Management ◽  
Neonatal Hemochromatosis ◽  
Appropriate Treatment ◽  
Specialized Center ◽  
Neonatal Liver ◽  
Neonatal Liver Failure

Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis. Many affected patients show antenatal signs of fetal injury. There are several causes of NLF and early diagnosis is mandatory to elucidate the etiology and determine a specific treatment or the best management strategy. Gestational alloimmune liver disease associated with neonatal hemochromatosis (GALD-NH) is a rare but potentially treatable cause of NLF. It should be considered in any neonate with fetal signs of disease and postnatal signs of liver failure with no other identifiable causes. GALD-NH is often diagnosed late and patients are therefore referred late to specialized centers, delaying treatment. This case highlights the consequences of late diagnosis and treatment of GALD-NH and emphasizes the importance of a high grade of suspicion of this disease in order to refer the patient to a specialized center soon enough to perform the appropriate treatment.

scholarly journals Stroke masquerading as cardiac arrest: the artery of Percheron

2021 ◽  
Vol 14 (1) ◽  
pp. e238681
Author(s):  
Megan Quetsch ◽  
Sureshkumar Nagiah ◽  
Stephen Hedger
Keyword(s):  
Cardiac Arrest ◽  
Clinical Assessment ◽  
Altered Consciousness ◽  
Cognitive Changes ◽  
Consciousness Level ◽  
Artery Of Percheron ◽  
Conscious Level ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

The artery of Percheron (AOP) is a rare arterial variant of the thalamic blood supply. Due to the densely packed collection of nuclei it supplies, an infarction of the AOP can be devastating. Here we highlight a patient who had an AOP stroke in the community, which was initially managed as cardiac arrest. AOP strokes most often present with vague symptoms such as reduced conscious level, cognitive changes and confusion without obvious focal neurology, and therefore are often missed at the initial clinical assessment. This case highlights the importance of recognising an AOP stroke as a cause of otherwise unexplained altered consciousness level and the use of MRI early in the diagnostic work-up.

scholarly journals Death of unknown cause? Post-mortem diagnosis of fulminant course of an EBV-associated secondary hemophagocytic lymphohistiocytosis

2021 ◽  
Author(s):  
Josia Fauser ◽  
Stefan Köck ◽  
Eberhard Gunsilius ◽  
Andreas Chott ◽  
Andreas Peer ◽  
...  
Keyword(s):  
Immune Response ◽  
Case Report ◽  
Macrophage Activation ◽  
Post Mortem ◽  
Life Threatening ◽  
Appropriate Therapy ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up ◽  
Secondary Hemophagocytic Lymphohistiocytosis

SummaryHLH is a life-threatening disease, which is characterized by a dysregulated immune response with uncontrolled T cell and macrophage activation. The often fulminant course of the disease needs a fast diagnostic work-up to initiate as soon as possible the appropriate therapy. We present herein the case of a 71-year-old patient with rapidly progressive hyperinflammatory syndrome, which post mortem resulted in the diagnosis of EBV-associated HLH. With this case report, we intend to highlight the relevance of the HScore in the diagnosis of HLH, to create a greater awareness for EBV as a trigger of HLH, and to demonstrate the importance of treating EBV-associated HLH as early as possible.

scholarly journals COVID-19 lung injury as a primer for immune checkpoint inhibitors (ICIs)-related pneumonia in a patient affected by squamous head and neck carcinoma treated with PD-L1 blockade: a case report

2021 ◽  
Vol 9 (2) ◽  
pp. e001870
Author(s):  
Angelo Dipasquale ◽  
Pasquale Persico ◽  
Elena Lorenzi ◽  
Daoud Rahal ◽  
Armando Santoro ◽  
...  
Keyword(s):  
Lung Injury ◽  
Head And Neck ◽  
Checkpoint Inhibitors ◽  
Experimental Therapy ◽  
Common Mechanism ◽  
Nasopharyngeal Swab ◽  
Immune Mediated ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

By the beginning of the global pandemic, SARS-CoV-2 infection has dramatically impacted on oncology daily practice. In the current oncological landscape, where immunotherapy has revolutionized the treatment of several malignancies, distinguishing between COVID-19 and immune-mediated pneumonitis can be hard because of shared clinical, radiological and pathological features. Indeed, their common mechanism of aberrant inflammation could lead to a mutual and amplifying interaction.We describe the case of a 65–year-old patient affected by metastatic squamous head and neck cancer and candidate to an experimental therapy including an anti-PD-L1 agent. COVID-19 ground-glass opacities under resolution were an incidental finding during screening procedures and worsened after starting immunotherapy. The diagnostic work-up was consistent with ICIs-related pneumonia and it is conceivable that lung injury by SARS-CoV-2 has acted as an inflammatory primer for the development of the immune-related adverse event.Patients recovered from COVID-19 starting ICIs could be at greater risk of recall immune-mediated pneumonitis. Nasopharyngeal swab and chest CT scan are recommended before starting immunotherapy. The awareness of the phenomenon could allow an easier interpretation of radiological changes under treatment and a faster diagnostic work-up to resume ICIs. In the presence of clinical benefit, for asymptomatic ICIs-related pneumonia a watchful-waiting approach and immunotherapy prosecution are suggested.

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